National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ring chromosome 2


Other Names:
Chromosome 2 ring; Ring 2; R2
Categories:
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may otherwise be generally healthy with no major birth defects. Signs and symptoms present in some people may include failure to thrive, developmental delay, low muscle tone (hypotonia), distinctive facial features, skeletal abnormalities, and/or other birth defects involving the heart, genitals, or other parts of the body.[1][2] Ring chromosome 2 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together.[2] Treatment for ring chromosome 2 depends on the signs and symptoms present in each person.
Last updated: 5/28/2018

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about ring chromosome 2.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Ring chromosome 2 syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171. Accessed 5/28/2018.
  2. Ring 2. Unique. 2005; https://www.rarechromo.org/media/information/Chromosome%20%202/Ring%202%20FTNW.pdf.